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Mayer-Rokitansky-Küster-Hauser syndrome

Case contributed by Utkarsh Kabra
Diagnosis almost certain

Presentation

Primary amenorrhea.

Patient Data

Age: 15 years
Gender: Female

Non-visualization of uterus, cervix, upper 2/3rd of the vagina. Only part of lower 3rd of vagina is visualized.

Both ovaries are normal.

Case Discussion

Non-visualization of uterus, cervix, upper 2/3rd of the vagina. Only part of lower 3rd of vagina is visualized, consistent with typical form (type A) of Mullerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser syndrome. MRI is the modality of choice for best characterization.

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